Crisponi syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Crisponi syndrome 1545, C1832409 CRLF1 Causal Pathogenic evidence from ClinVar 12509788, 17436251, 17436252 ClinVar
CLCF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1678282, 20400119 -
KLHL7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27392078 -
RAD9A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 C4310742 KLHL7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27392078 -